REPROGRAMMING EXPERIENCE OF BLOOD MONONUCLEAR CELLS INTO INDUCED PLURIPOTENT STEM CELLS (IPSCS) IN A PATIENT WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA (CPVT)
DOI:
https://doi.org/10.34689/6yt0gd05Keywords:
iPSCs, CPVT, cardiac arrhythmia, mutation, disease modeling, personalized medicineAbstract
Introduction. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited arrhythmia linked to
RYR2 mutations. CPVT is a major cause of sudden cardiac death in the young. Here we outline the experience of induced
pluripotent stem cells (iPSCs) generation from a healthy donor and a patient with CPVT. By establishing iPSCs from affected
individuals, this study can reveal mechanisms of disease pathophysiology and the potential of iPSC technology to develop
cardiogenetic research and personalized medicine.
Aim. To investigate experimental methods used to generate and validate iPSCs derived from a healthy donor with wild
type RYR2 and a patient with RYR2 mutation.
Materials and methods. A 33-year-old female patient with CPVT was genetically screened using Sanger sequencing,
revealing a de novo RYR2 mutation (c.13892A>T; p.D4631V). Peripheral blood mononuclear cells of a healthy donor and a
patient were isolated by density gradient centrifugation and reprogrammed into iPSCs using the Sendai virus method. Cells
were cultured under feeder-free conditions in Essential 8™ Flex medium. Pluripotency was confirmed via several methods,
such as immunocytochemistry and G-banding karyotyping.
Results. The isolated cells showed optimal morphology, with cell colonies displaying smooth, well-defined edges and a
rounded shape. The cells within the colonies were densely packed. Immunostaining confirmed the expression of the
pluripotency marker TRA-1-60. Karyotype analysis revealed that all derived cell lines maintained stable chromosomal
integrity.
Conclusions. iPSCs were successfully generated from a healthy donor to serve as a “control” for comparison with
patient-derived iPSCs carrying a de novo heterozygous RYR2 mutation (c.13892A>T; p.D4631V). This iPSC-based model
offers a valuable platform for investigating CPVT pathophysiology and testing potential therapeutic approaches.
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Satvaldina N.N., Tolymbekova A., Rakhimova S.E., Abilova Zh.M., Akilzhanova A.R. Reprogramming experience of blood mononuclear cells into induced pluripotent stem cells (iPSCs) in a patient with catecholaminergic polymorphic ventricular tachycardia (CPVT) // Nauka i Zdravookhranenie [Science & Healthcare]. 2025. Vol.27 (4), pp. 7-13. doi 10.34689/SH.2025.27.4.001
Сатвалдина Н.Н., Толымбекова А., Рахимова С.Е., Абилова Ж.М., Акильжанова А.Р. Катехоламинергиялық полиморфты қарыншалық тахикардия (КПҚТ) бар науқастың қан мононуклеарлы жасушаларын индукцияланған плюрипотентті дің жасушаларына (иПДЖ) қайта бағдарламалау тәжірибесі // Ғылым және Денсаулық. 2025. Т.27 (4), Б. 7–13. doi: 10.34689/SH.2025.27.4.001
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